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6.3.4.10: biotin-[propionyl-CoA-carboxylase (ATP-hydrolysing)] ligase

This is an abbreviated version!
For detailed information about biotin-[propionyl-CoA-carboxylase (ATP-hydrolysing)] ligase, go to the full flat file.

Word Map on EC 6.3.4.10

Reaction

ATP
+
biotin
 +
apo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)]
=
AMP
 +
diphosphate
 +
[propionyl-CoA:carbon-dioxide ligase (ADP-forming)]

Synonyms

biotin protein ligase, Biotin-propionyl coenzyme A carboxylase synthetase, Biotin-[propionyl-CoA-carboxylase (ATP-hydrolysing)] synthetase, BPL, HCS, HLCS, Holocarboxylase synthetase, Propionyl coenzyme A holocarboxylase synthetase, Synthetase, biotin-propionyl coenzyme A carboxylase

ECTree

     6 Ligases
         6.3 Forming carbon-nitrogen bonds
             6.3.4 Other carbon-nitrogen ligases
                6.3.4.10 biotin-[propionyl-CoA-carboxylase (ATP-hydrolysing)] ligase

Engineering

Engineering on EC 6.3.4.10 - biotin-[propionyl-CoA-carboxylase (ATP-hydrolysing)] ligase

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PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
D571N
-
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
G518E
-
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
L216R
-
mutation outside the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
N511I
-
mutation idientified in 2-year old patient with elevated 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine, lactate and methylcitrate levels
N570K
-
plus mutation c.1519+5GNA, idientified in 5-month old patient with elevated 3-hydroxyisovalerate, and 3-methylcrotonylglycine levels
R508W
-
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
R565X/G326E
-
mutation idientified in 18-day old patient with elevated 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine and methylcitrate levels
R655X
-
mutation identified in 3-year old patient with elevated 3-hydroxybutanoate, 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine, acetoacetate and lactate levels
V363D
-
mutation outside the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
V550M
-
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
additional information
-
identification of naturally occuring mutations leading to multiple carboxylase deficiency, MCD, an autosomal recessive metabolic disorder caused by HLCS deficiency, overview